MCID: DBT084
MIFTS: 52

Diabetes Mellitus, Ketosis-Prone

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Diabetes Mellitus, Ketosis-Prone

MalaCards integrated aliases for Diabetes Mellitus, Ketosis-Prone:

Name: Diabetes Mellitus, Ketosis-Prone 57 12 75 29 13 40
Diabetic Ketoacidosis 12 55 44 15 73
Diabetes Mellitus, Ketosis-Prone, Susceptibility to 57 6
Ketosis-Prone Diabetes Mellitus 12 37
Kpd 57 75
Diabetes Mellitus, Insulin-Dependent 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (in 1 patient)
autosomal recessive

Miscellaneous:
hla class ii alleles specify ketosis-prone diabetes (kpd) subgroup
near-normoglycemic remission for period of months to years without insulin treatment


HPO:

32
diabetes mellitus, ketosis-prone:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 612227
Disease Ontology 12 DOID:1837
ICD9CM 35 250.1
NCIt 50 C50530
KEGG 37 H01224
UMLS 73 C0011880

Summaries for Diabetes Mellitus, Ketosis-Prone

OMIM : 57 In addition to classic type 1 (see 222100) and type 2 (see 125853) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002). (612227)

MalaCards based summary : Diabetes Mellitus, Ketosis-Prone, also known as diabetic ketoacidosis, is related to diabetes mellitus and type 1 diabetes mellitus 13, and has symptoms including polyuria and polydipsia. An important gene associated with Diabetes Mellitus, Ketosis-Prone is PAX4 (Paired Box 4), and among its related pathways/superpathways are Glucose / Energy Metabolism and Butanoate metabolism. The drugs Metformin and insulin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and heart, and related phenotypes are diabetes mellitus and insulin resistance

UniProtKB/Swiss-Prot : 75 Diabetes mellitus, ketosis-prone: An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding.

Wikipedia : 76 Ketosis-prone diabetes or KPD is an intermediate form of diabetes that has some characteristics of type... more...

Related Diseases for Diabetes Mellitus, Ketosis-Prone

Diseases related to Diabetes Mellitus, Ketosis-Prone via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 28.8 GAD1 GAD2 INS PAX4 PIK3C2A
2 type 1 diabetes mellitus 13 10.5 GAD2 INS
3 monogenic diabetes 10.4 INS PAX4
4 monocarboxylate transporter 1 deficiency 10.4 GAD1 INS
5 spastic cerebral palsy 10.3 GAD1 GAD2
6 limbic encephalitis 10.3 GAD1 GAD2
7 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 GAD1 GAD2
8 prediabetes syndrome 10.2 GAD1 INS
9 sarcocystosis 10.2 GAD1 PIK3C2A
10 endocrine pancreas disease 10.2 INS SLC5A2
11 acute pancreatitis 10.1
12 pancreatitis 10.1
13 autoimmune polyendocrine syndrome, type ii 10.1 GAD1 GAD2 INS
14 glucose metabolism disease 10.1 GAD2 INS SLC5A2
15 stiff-person syndrome 10.1 GAD1 GAD2 INS
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 GAD1 GAD2 INS
17 acquired metabolic disease 10.1 GAD2 INS SLC5A2
18 hypokalemic periodic paralysis, type 1 9.9 BRD4 INS
19 autoimmune polyendocrine syndrome 9.9 GAD1 GAD2
20 multiple cranial nerve palsy 9.8 BRD4 RHNO1
21 pancreas disease 9.8 INS SLC5A2
22 diabetes mellitus, noninsulin-dependent 9.0 ACACA GAD2 INS PAX4 SLC5A2
23 diabetes mellitus, insulin-dependent 8.7 GAD1 GAD2 INS PAX4 SLC30A10

Comorbidity relations with Diabetes Mellitus, Ketosis-Prone via Phenotypic Disease Network (PDN):


Acute Cystitis Decubitus Ulcer
Heart Disease Hypertension, Essential
Ischemic Heart Disease

Graphical network of the top 20 diseases related to Diabetes Mellitus, Ketosis-Prone:



Diseases related to Diabetes Mellitus, Ketosis-Prone

Symptoms & Phenotypes for Diabetes Mellitus, Ketosis-Prone

Symptoms via clinical synopsis from OMIM:

57
Abdomen Pancreas:
beta-cell dysfunction of varying degrees

Immunology:
autoimmunity to pancreatic beta cells (rare)

Metabolic Features:
ketoacidosis
insulin resistance, variable


Clinical features from OMIM:

612227

Human phenotypes related to Diabetes Mellitus, Ketosis-Prone:

32
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 insulin resistance 32 HP:0000855
3 ketoacidosis 32 HP:0001993
4 autoimmunity 32 HP:0002960
5 beta-cell dysfunction 32 HP:0006279

UMLS symptoms related to Diabetes Mellitus, Ketosis-Prone:


polyuria, polydipsia

MGI Mouse Phenotypes related to Diabetes Mellitus, Ketosis-Prone:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.17 ACACA GAD1 GAD2 INS PAX4 PIK3C2A

Drugs & Therapeutics for Diabetes Mellitus, Ketosis-Prone

Drugs for Diabetes Mellitus, Ketosis-Prone (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2 insulin Phase 4
3
protease inhibitors Phase 4
4 Sitagliptin Phosphate Phase 4
5 HIV Protease Inhibitors Phase 4
6 Hormone Antagonists Phase 4
7 Dipeptidyl-Peptidase IV Inhibitors Phase 4
8 Hormones Phase 4
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
10 Hypoglycemic Agents Phase 4
11 Incretins Phase 4
12 Insulin, Globin Zinc Phase 4
13
Pioglitazone Approved, Investigational 111025-46-8 4829
14 Soybean oil, phospholipid emulsion Not Applicable
15 Parenteral Nutrition Solutions Not Applicable
16 Pharmaceutical Solutions Not Applicable
17 Fat Emulsions, Intravenous Not Applicable
18 Soy Bean Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ketosis-Prone Diabetes Mellitus (KPDM): Metformin Versus Sitagliptin Treatment Completed NCT01099618 Phase 4 metformin;placebo;Sitagliptin
2 Ketosis Prone Diabetes in African-Americans Completed NCT00426413 pioglitazone
3 Mechanism Underlying Beta-cell Failure in Obese African Americans With History of Hyperglycemic Crises Completed NCT00753142 Not Applicable Intralipid 20%;Glucose infusion
4 Study of Arginine and Nitric Oxide in Patients With Diabetes Not yet recruiting NCT03566524 Not Applicable

Search NIH Clinical Center for Diabetes Mellitus, Ketosis-Prone

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: diabetic ketoacidosis

Genetic Tests for Diabetes Mellitus, Ketosis-Prone

Genetic tests related to Diabetes Mellitus, Ketosis-Prone:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Ketosis-Prone 29 PAX4

Anatomical Context for Diabetes Mellitus, Ketosis-Prone

MalaCards organs/tissues related to Diabetes Mellitus, Ketosis-Prone:

41
Testes, Brain, Heart, Thyroid, Pituitary, Endothelial, Lung

Publications for Diabetes Mellitus, Ketosis-Prone

Articles related to Diabetes Mellitus, Ketosis-Prone:

(show top 50) (show all 770)
# Title Authors Year
1
Scrub typhus initially manifested as diabetic ketoacidosis: A case report. ( 29872635 )
2018
2
Respiratory failure in a diabetic ketoacidosis patient with severe hypophosphatemia. ( 29969883 )
2018
3
Inequalities in glycaemic control, hypoglycaemia and diabetic ketoacidosis according to socio-economic status and area-level deprivation in Type 1 diabetes mellitus: a systematic review. ( 28945942 )
2018
4
Impact of the hyperchloremic component of metabolic acidosis on the patient's hydration status and the treatment of diabetic ketoacidosis. ( 29756707 )
2018
5
Central Pontine Myelinolysis in Pediatric Diabetic Ketoacidosis. ( 29973999 )
2018
6
Dengue hemorrhagic fever complicated with transient diabetic ketoacidosis: a case report. ( 29078811 )
2017
7
Factors Associated with the Presence and Severity of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Korean Children and Adolescents. ( 28049242 )
2017
8
Nephrolithiasis: A complication of pediatric diabetic ketoacidosis. ( 28737266 )
2017
9
Diabetic ketoacidosis and diabetes associated with antipsychotic exposure among a previously diabetes-naive population with schizophrenia: a nationwide nested case-control study. ( 28593353 )
2017
10
Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy. ( 28588004 )
2017
11
Nivolumab-induced autoimmune diabetes mellitus presenting as diabetic ketoacidosis in a patient with metastatic lung cancer. ( 28515940 )
2017
12
Diabetic Ketoacidosis as an Immune-related Adverse Event from Pembrolizumab in Non-Small Cell Lung Cancer. ( 28557813 )
2017
13
Controlled trial of Hartmann's solution versus 0.9% saline for diabetic ketoacidosis. ( 28070957 )
2017
14
Euglycemic Diabetic Ketoacidosis with Persistent Diuresis Treated with Canagliflozin. ( 28090050 )
2017
15
Diabetic ketoacidosis in acromegaly; a rare complication precipitated by corticosteroid use. ( 28951345 )
2017
16
An unusual manifestation of diabetic ketoacidosis and acute colonic pseudo-obstruction. ( 28620506 )
2017
17
Predictors of Recurrent Hospital Admission for Patients Presenting With Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State. ( 27924173 )
2017
18
Incidence and prevalence of diabetic ketoacidosis (DKA) among adults with type 1 diabetes mellitus (T1D): a systematic literature review. ( 28765134 )
2017
19
Haemophilus influenzae Pyomyositis in a Patient with Diabetic Ketoacidosis: A Unique Case and Review of Literature. ( 28352482 )
2017
20
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis. ( 28831725 )
2017
21
Pancreatic Panniculitis Sans Pancreatitis in a Patient with Diabetic Ketoacidosis. ( 28733691 )
2017
22
Diabetic ketoacidosis by empaglifozin and intestinal obstruction. The importance of arterial blood gas analysis. ( 29196038 )
2017
23
Detection of h-FABP (heart-type fatty acid binding protein) Levels in Diabetic Ketoacidosis and Identification of Early Cardiac Effects of Ketoacidosis. ( 28077344 )
2017
24
Euglycemic Diabetic Ketoacidosis Accompanied by Severe Hypophosphatemia During Recovery in a Patient With Type 2 Diabetes Being Treated With Canagliflozin/Metformin Combination Therapy. ( 29109617 )
2017
25
Case of diabetic ketoacidosis as an initial presentation of Cushing's syndrome. ( 28458895 )
2017
26
Severe Hypertriglyceridemia Causing Pancreatitis in a Child with New-onset Type-I Diabetes Mellitus Presenting with Diabetic Ketoacidosis. ( 28400692 )
2017
27
Thyroid Storm Precipitated by Diabetic Ketoacidosis and Influenza A: A Case Report and Literature Review. ( 28090049 )
2017
28
Glucose-6-Phosphate Dehydrogenase Deficiency Unveiled by Diabetic Ketoacidosis: A Dual Dilemma. ( 28799315 )
2017
29
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY POSITION STATEMENT ON THE ASSOCIATION OF SGLT-2 INHIBITORS AND DIABETIC KETOACIDOSIS. ( 27082665 )
2016
30
Risk factors and predictors of uncontrolled hyperglycemia and diabetic ketoacidosis in type 1 diabetic children and adolescents, in Jeddah, Western Saudi Arabia. ( 27043144 )
2016
31
Serum Levels of Neuron-Specific Enolase in Children With Diabetic Ketoacidosis. ( 28056586 )
2016
32
The Author Reply: Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis. ( 27462590 )
2016
33
Sodium-Glucose Cotransporter 2 Inhibitors and Euglycemic Diabetic Ketoacidosis: Metabolic Acidosis With a Twist. ( 27766015 )
2016
34
Hereditary haemochromatosis presenting with diabetic ketoacidosis. ( 27634967 )
2016
35
Thyroid storm presenting as psychosis: masked by diabetic ketoacidosis. ( 27609719 )
2016
36
Fluid and Electrolyte Therapy in Diabetic Ketoacidosis. ( 28017407 )
2016
37
Comatose and noncomatose adult diabetic ketoacidosis patients at the University Teaching Hospital, Zambia: Clinical profiles, risk factors, and mortality outcomes. ( 27042416 )
2016
38
Optic Nerve Sheath Diameter Measurement During Diabetic Ketoacidosis: A Pilot Study. ( 27625716 )
2016
39
Risk factors for recurrent diabetic ketoacidosis. ( 27627875 )
2016
40
High frequency of diabetic ketoacidosis at diagnosis of type 1 diabetes in Italian children: a nationwide longitudinal study, 2004-2013. ( 27991500 )
2016
41
Pituitary apoplexy presenting as diabetic ketoacidosis: A great simulator? Case Report. ( 26994379 )
2016
42
Non-occlusive Mesenteric Ischemia with Diabetic Ketoacidosis and Lactic Acidosis Following the Administration of a Sodium Glucose Co-transporter 2 Inhibitor. ( 27374678 )
2016
43
SGLT2 Inhibitors: A Systematic Review of Diabetic Ketoacidosis and Related Risk Factors in the Primary Literature. ( 27931088 )
2016
44
Diabetic ketoacidosis in vanishing white matter. ( 27525068 )
2016
45
Euglycemic diabetic ketoacidosis in type 2 diabetes with sodium glucose cotransporter 2 inhibitors. ( 27614369 )
2016
46
Letter to the Editor: Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis. ( 27464241 )
2016
47
Neuroimaging findings in acute pediatric diabetic ketoacidosis. ( 27531862 )
2016
48
Evaluation of the Accuracy of Capillary Hydroxybutyrate Measurement Compared with Other Measurements in the Diagnosis of Diabetic Ketoacidosis: A Systematic Review. ( 27563914 )
2016
49
Diabetic Ketoacidosis without Diabetes. ( 27636019 )
2016
50
Euglycemic diabetic ketoacidosis with canagliflozin: Not-so-sweet but avoidable complication of sodium-glucose cotransporter-2 inhibitor use. ( 27629668 )
2016

Variations for Diabetes Mellitus, Ketosis-Prone

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Ketosis-Prone:

75
# Symbol AA change Variation ID SNP ID
1 PAX4 p.Arg45Trp VAR_054880
2 PAX4 p.Arg141Trp VAR_054882 rs2233578

ClinVar genetic disease variations for Diabetes Mellitus, Ketosis-Prone:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh37 Chromosome 7, 127254551: 127254551
2 PAX4 NM_006193.2(PAX4): c.397C> T (p.Arg133Trp) single nucleotide variant risk factor rs2233578 GRCh38 Chromosome 7, 127614497: 127614497

Expression for Diabetes Mellitus, Ketosis-Prone

Search GEO for disease gene expression data for Diabetes Mellitus, Ketosis-Prone.

Pathways for Diabetes Mellitus, Ketosis-Prone

GO Terms for Diabetes Mellitus, Ketosis-Prone

Cellular components related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inhibitory synapse GO:0060077 8.96 GAD1 GAD2
2 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

Biological processes related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 GAD1 GAD2 PAX4
2 epidermal growth factor receptor signaling pathway GO:0007173 9.43 PIK3C2A SLC30A10
3 neurotransmitter secretion GO:0007269 9.37 GAD1 GAD2
4 positive regulation of cell differentiation GO:0045597 9.32 INS PAX4
5 carboxylic acid metabolic process GO:0019752 9.26 GAD1 GAD2
6 neurotransmitter biosynthetic process GO:0042136 9.16 GAD1 GAD2
7 negative regulation of reactive oxygen species biosynthetic process GO:1903427 8.96 INS SLC30A10
8 glutamate decarboxylation to succinate GO:0006540 8.62 GAD1 GAD2

Molecular functions related to Diabetes Mellitus, Ketosis-Prone according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.26 GAD1 GAD2
2 carboxy-lyase activity GO:0016831 9.16 GAD1 GAD2
3 glutamate binding GO:0016595 8.96 GAD1 GAD2
4 glutamate decarboxylase activity GO:0004351 8.62 GAD1 GAD2

Sources for Diabetes Mellitus, Ketosis-Prone

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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